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searching for Agenesis of the corpus callosum 20 found (79 total)

alternate case: agenesis of the corpus callosum

Electroneutral cation-Cl (756 words) [view diff] exact match in snippet view article find links to article

down-regulated by tumour necrosis factor. Defects in KCC3 are linked to agenesis of the corpus callosum with peripheral neuropathy. This disorder is characterised

Oculocerebrocutaneous syndrome (158 words) [view diff] exact match in snippet view article find links to article

characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags. The symptoms include: Skin lesions Hypoplastic

SLC12A6 (787 words) [view diff] exact match in snippet view article find links to article

KCC3a and KCC3b. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. Solute carrier family GRCh38: Ensembl

Halperin-Birk syndrome (1,457 words) [view diff] exact match in snippet view article find links to article

with no eye fixation. Brain MRI demonstrated microcephaly and agenesis of the corpus callosum. The syndrome was first described in 2019 by Daniel Halperin

Frederick Andermann (975 words) [view diff] exact match in snippet view article find links to article

87–103 Andermann, E; Andermann, F; Joubert, M (1972). "Familial agenesis of the corpus callosum with anterior horn cell disease. A syndrome of mental retardation

Chudley–Mccullough syndrome (1,393 words) [view diff] exact match in snippet view article find links to article

(1999-09-10). "Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters". American Journal of Medical

Saal Bulas syndrome (172 words) [view diff] exact match in snippet view article find links to article

"Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum". Clinical Dysmorphology. 4 (3): 246–50. PMID 7551162. Orpha

MASA syndrome (949 words) [view diff] exact match in snippet view article find links to article

an abrupt, uncontrolled disturbance in the brain. Lastly, agenesis of the corpus callosum, a rare congenital disorder. It is characterized by a partial

Mowat–Wilson syndrome (760 words) [view diff] exact match in snippet view article find links to article

anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Speech is typically limited to a few words or is absent, with

Developmental disorder (3,124 words) [view diff] exact match in snippet view article find links to article

ASD. A study also found that 33% of people who have AgCC (agenesis of the corpus callosum), a condition in which the corpus callosum is partially or

IGBP1 (829 words) [view diff] exact match in snippet view article find links to article

Schwartz CE, Cox TC (Nov 2003). "A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation

NFIA (851 words) [view diff] exact match in snippet view article find links to article

(Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum". Proceedings of the National Academy of Sciences of the United

Joubert syndrome (1,523 words) [view diff] exact match in snippet view article find links to article

(August 2016). "MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum". European Journal of Medical Genetics. 59 (8): 386–91. doi:10

Brachycephaly (1,403 words) [view diff] exact match in snippet view article find links to article

Acyl-CoA oxidase deficiency Adenylosuccinate lyase deficiency Agenesis of the corpus callosum with peripheral neuropathy ALDH18A1-related de Barsy syndrome

Michael T. Gabbett (999 words) [view diff] exact match in snippet view article find links to article

Zschocke, J; Robertson, SP; Van Haelst, MM; Wimmer, K (2013). "Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional

Gap-43 protein (1,884 words) [view diff] exact match in snippet view article find links to article

interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum". Clinical Dysmorphology. 3 (4): 292–6. doi:10.1097/00019605-199410000-00003

Empathising–systemising theory (5,978 words) [view diff] exact match in snippet view article find links to article

corpus callosum does not fully develop (45% of children with agenesis of the corpus callosum). A further example of brain structures relating to ASD is

Cyclin-dependent kinase 8 (2,557 words) [view diff] exact match in snippet view article find links to article

pocket of the kinase domain. The clinical features include agenesis of the corpus callosum, mild to moderate intellectual disability, hypotonia, seizures

MIPOL1 (1,969 words) [view diff] exact match in snippet view article find links to article

and the loss of this gene can cause craniofacial defects and agenesis of the corpus callosum. The gene is shown to function as a tumor suppressor in nasopharyngeal

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

type 1, X-linked; 300755; BTK AGAT deficiency; 612718; GATM Agenesis of the corpus callosum with peripheral neuropathy; 218000; SLC12A6 Aicardi–Goutières